Canonical Allele Identifier: CA450411501

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1591273
• ClinVar RCV Id: RCV002119844
• dbSNP Id: rs2150277345
• gnomAD v4: 6-51627019-T-C
• MyVariant Identifiers: chr6:g.51491817T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627019T>C , CM000668.2:g.51627019T>C	GRCh38
NC_000006.11:g.51491817T>C , CM000668.1:g.51491817T>C	GRCh37
NC_000006.10:g.51599776T>C	NCBI36
NG_008753.1:g.465607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11763A>G MANE Select	ENSP00000360158.3:p.Lys3921=
ENST00000371117.7:c.11763A>G	ENSP00000360158.3:p.Lys3921=
NM_138694.3:c.11763A>G	NP_619639.3:p.Lys3921=
XM_011514679.1:c.11763A>G	XP_011512981.1:p.Lys3921=
XM_011514680.1:c.11763A>G	XP_011512982.1:p.Lys3921=
XM_011514681.1:c.11634A>G	XP_011512983.1:p.Lys3878=
XM_011514682.1:c.11625A>G	XP_011512984.1:p.Lys3875=
XM_011514683.1:c.11121A>G	XP_011512985.1:p.Lys3707=
XM_011514684.1:c.11052A>G	XP_011512986.1:p.Lys3684=
XM_011514690.1:c.5838A>G	XP_011512992.1:p.Lys1946=
XM_011514691.1:c.5838A>G	XP_011512993.1:p.Lys1946=
XM_011514680.3:c.11763A>G	XP_011512982.1:p.Lys3921=
XM_011514682.3:c.11625A>G	XP_011512984.1:p.Lys3875=
XM_011514683.3:c.11121A>G	XP_011512985.1:p.Lys3707=
XM_011514684.3:c.11052A>G	XP_011512986.1:p.Lys3684=
XM_011514690.3:c.5838A>G	XP_011512992.1:p.Lys1946=
XM_011514691.3:c.5838A>G	XP_011512993.1:p.Lys1946=
XM_017010944.2:c.11763A>G	XP_016866433.1:p.Lys3921=
XM_017010945.2:c.11688A>G	XP_016866434.1:p.Lys3896=
XM_017010946.2:c.11568A>G	XP_016866435.1:p.Lys3856=
XM_017010947.2:c.11499A>G	XP_016866436.1:p.Lys3833=
XM_017010948.2:c.11052A>G	XP_016866437.1:p.Lys3684=
XM_017010949.2:c.9903A>G	XP_016866438.1:p.Lys3301=
NM_138694.4:c.11763A>G MANE Select	NP_619639.3:p.Lys3921=